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      Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxia-telangiectasia Translated title: Germ cell ovarian tumor in an adolescent with ataxia-telangiectasia

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          Abstract

          RESUMEN: Antecedentes: la ataxia-telangiectasia es una enfermedad hereditaria con patrón de herencia autosómico recesivo. Se caracteriza por deterioro neurológico, telangiectasias e inmunodeficiencia. Su causa es una mutación en el gen ATM (ataxia telangiectasia mutated) localizado en el cromosoma 11q22.3-23.1, relacionado con la síntesis de una proteína con actividad fosfoinositol-3-cinasa que participa en la regulación del ciclo celular y en la reparación del ácido desoxirribonucleico; esto explica, en parte, la susceptibilidad al desarrollo de neoplasias. Su asociación con algunos tipos de cáncer se ha establecido previamente y la mayor incidencia es con leucemias y linfomas. Se han reportado siete niñas con ataxia-telangiectasia asociada con tumores sólidos germinales, específicamente con disgerminoma. Caso clínico: mujer adolescente de 12 años con diagnóstico de ataxia-telangiectasia desde los tres años. Tuvo infecciones repetidas de las vías respiratorias que requirieron múltiples hospitalizaciones de dos a tres veces por mes; recibió tratamiento con inmunoglobulina y profilaxis antimicrobiana. A los 12 años acudió al servicio de urgencias con abdomen agudo; fue operada y se halló una masa abdominopélvica que se extirpó. El diagnóstico fue de tumor germinal mixto con componente de disgerminoma y coriocarcinoma de ovario. Recibió un primer ciclo de quimioterapia con bleomicina (10 UI/m2/día, una dosis), ciclofosfa-mida (1 g/m2/día por cuatro días) y cisplatino (20 mg/m2/dosis por cinco días). Se suspendió la quimioterapia porque desarrolló choque séptico que puso en riesgo su vida. Por su enfermedad de base permaneció bajo vigilancia. Actualmente, 17 meses después, la paciente vive sin actividad tumoral. Conclusión: existe asociación entre ataxia-telangiectasia, leucemia y linfomas. Se describe el caso clínico de una paciente con ataxia-telan-giectasia y tumor germinal mixto con componente de disgerminoma y coriocarcinoma de ovario. Se propone establecer un tratamiento especial para estos pacientes inmunocomprometidos, con alto riesgo de cáncer pero, a la vez, de no tolerar los esquemas habituales.

          Translated abstract

          ABSTRACT: Background: Ataxia-telangiectasia (AT) is an autosomal recessive hereditary disease characterized by neurological deterioration, telangiectasias and immunodeficiency. The cause is a punctual mutation in ATM gene localized in chromosome 11q22.3-23.1, which translates into a phosphoinositol 3-kinase protein. This protein regulates the cell cycle and the repair of the DNA. This defect partially explains the increased risk of cancer. The association of the AT with cancer has been already established, being the major incidence of leukemias and lymphomas. In the literature, seven girls have been reported with the association of AT and germ cell solid tumors, specifically with dysgerminoma. Case report: We present the case of a 12-year-old female who was diagnosed with AT since 3 years of age. She presented recurrent respiratory tract infections requiring multiple hospitalizations and was treated with immunoglobulin and antimicrobial prophylaxis. She was admitted in the emergency ward with acute abdomen and was evaluated by surgical oncology and operated. An abdominal mass was found and resected. Pathology reported an ovaric mixed germ cell tumor with coriocarcinoma and dysgerminoma. She was treated with one dose of bleomicin (10 UI/m2), cyclophosphamide (1 g/m2/day for four days) and cysplatin (20 mg/m2/day for five days). During chemotherapy she presented a live threatening septic shock. Because of AT it was decided to stop chemotherapy. At present, the patient is alive without tumor activity for 17 months. Conclusion: AT is associated with leukemias and lymphomas. We report a case of an AT patient with ovarian tumor, coriocarcinoma and dysgerminoma components. A special approach is proposed for these inmunocompromised patients who are leaving more and are at high risk of cancer but may not tolerate standard treatments.

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          Most cited references 20

          • Record: found
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          Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia Queensland Institute of medical Research, Brisbane

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            Telomeric protein Pin2/TRF1 as un important ATM target in response to double stran DNA breaks

             S Kishi,  Zho Xz,  Y Ziv (2011)
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              Ataxia - telangiectasia with dysgermi-noma of right ovary, papillary carcinoma of thyroid, and adenocarcinoma of pancreas

               T Narita,  K Takagi (1984)
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                Author and article information

                Affiliations
                [1 ] Instituto Nacional de Pediatría México
                [2 ] Instituto Nacional de Pediatría
                [3 ] Instituto Nacional de Pediatría México
                [4 ] Instituto Nacional de Pediatría México
                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                apm
                Acta pediátrica de México
                Acta pediatr. Méx
                Instituto Nacional de Pediatría
                2395-8235
                December 2015
                : 36
                : 6
                : 464-472
                S0186-23912015000600464

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                Product
                Product Information: SciELO Mexico
                Categories
                Pediatrics

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